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Genetics > Trisomy Syndromes > Flashcards

Trisomy Syndromes Flashcards

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1
Q

95% of cases of Down syndrome are due to…

A

Meiotic nondisjunction

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2
Q

4% of Down syndrome cases are due to…

A

Robertsonian translocation

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3
Q

1% of Down syndrome cases are due to…

A

Mosaicism (no maternal association; post-fertilization mitotic error)

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4
Q

Most common viable chromosomal disorder and most common cause of genetic intellectual disability

A

Down syndrome

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5
Q

In cases of Down syndrome, first-trimester ultrasound commonly shows…and…

A

Increased nuchal translucency; hypoplastic nasal bone

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6
Q

In the first trimester of a Down syndrome pregnancy, serum PAPP-A levels are…and serum free beta-hCG levels are…

A

Decreased; increased

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7
Q

In the second trimester of a Down syndrome pregnancy, maternal serum testing shows…

A
  1. Decreased alpha-fetoprotein
  2. Increased beta-hCG
  3. Decreased estriol
  4. Increased inhibin A
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8
Q

Clinical findings in Edwards syndrome (trisomy 18)

A
  1. Severe intellectual disability
  2. Rocker-bottom feet
  3. Micrognathia (small jaw)
  4. Low-set ears
  5. Clenched hands with overlapping fingers
  6. Prominent occiput
  7. Congenital heart disease
  8. Death usually occurs within one year of birth
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9
Q

Second most common trisomy resulting in live birth

A

Edwards syndrome

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10
Q

In the first trimester of Edwards syndrome pregnancy, maternal serum testing reveals…

A

Decreased levels of both PAPP-A and free beta-hCG

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11
Q

In the second trimester of Edwards syndrome pregnancy, maternal serum testing reveals…

A
  1. Decreased alpha-fetoprotein
  2. Decreased beta-hCG
  3. Decreased estriol
  4. Decreased or normal inhibin A
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12
Q

Clinical findings in Patau syndrome (trisomy 13)

A
  1. Severe intellectual disability
  2. Rocker-bottom feet
  3. Microphthalmia
  4. Microcephaly
  5. Cleft lip/palate
  6. Holoprosencephaly
  7. Polydactyly
  8. Congenital heart disease
  9. Cutis aplasia
  10. Death usually occurs within first year of life
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13
Q

What does first trimester pregnancy screening reveal in cases of Patau syndrome?

A
  1. Decreased free beta-hCG
  2. Decreased PAPP-A
  3. Increased nuchal translucency
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14
Q

Clinical findings in Down syndrome (trisomy 21)

A
  1. Intellectual disability
  2. Flat facies
  3. Prominent epicanthal folds
  4. Single palmar crease
  5. Gap between first two toes
  6. Duodenal atresia
  7. Hirschsprung disease
  8. Congenital heart disease (particularly ASD)
  9. Brushfield spots
  10. Early-onset Alzheimer disease
  11. Increased risk of ALL and AML
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Genetics (14 decks)

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